CFAP97

cilia and flagella associated protein 97, the group of Cilia and flagella associated

Basic information

Region (hg38): 4:185159665-185209504

Previous symbols: [ "KIAA1430" ]

Links

ENSG00000164323 ∙ NCBI:57587 ∙ OMIM:616047 ∙ HGNC:29276 ∙ Uniprot:Q9P2B7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP97 gene.

• not_specified (88 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP97 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020827.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	3	5
missense			82	6	1	89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	82	8	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP97	protein_coding	protein_coding	ENST00000458385	4	49840

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000105	0.950	124563	0	60	124623	0.000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.229	284	273	1.04	0.0000141	3460
Missense in Polyphen		85	91.735	0.92658		1200
Synonymous	-0.0444	103	102	1.01	0.00000554	997
Loss of Function	1.78	9	16.9	0.534	7.01e-7	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000931	0.0000928
European (Non-Finnish)	0.000395	0.000389
Middle Eastern	0.00	0.00
South Asian	0.000229	0.000196
Other	0.000349	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.36
• rvis_percentile_EVS: 74.63

Haploinsufficiency Scores

• pHI: 0.143
• hipred: N
• hipred_score: 0.123
• ghis: 0.534

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap97